congenital disorder of glycosylation type IIj

A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the COG4 gene on chromosome 16q22.1.

Signs and symptoms

• Elevated circulating alkaline phosphatase concentration
• Type II transferrin isoform profile
• Irritability
• Frontotemporal cerebral atrophy
• Elevated circulating hepatic transaminase concentration
• Hyperreflexia
• Axial hypotonia
• Microcephaly
• Absent speech
• Global developmental delay

Also known as: CDG IIj; CDG syndrome type IIj; CDG2J; CDGIIj; COG4-CDG